A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773593



Internal ID9833031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471149..204471636hg38UCSC Ensembl
Outerchr1:204440277..204440764hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721851, esv2721873
Supporting Variants
SamplesSSM066
Known GenesPIK3C2B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6773593
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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